title: A case of carotid body paraganglioma and haemangioblastoma of the spinal cord in a patient with the N131K missense mutation in the VHL gene.
abstract: The article describes paraganglioma case in woman with von Hippel-Lindau disease. She was found to be a carrier of a rare germline mutation in the VHL gene (393C>A; N131K). The patient developed large, untypical for von Hippel-Lindau disease, carotid body paraganglioma at the common carotid artery bifurcation. The carotid body paraganglioma coexisted with the haemangioblastoma situated intramedullary in region C5/C6. The haemangioblastoma reached the right-sided dorsal part of the spinal cord in section C5/C6. It produced radicular symptoms within C5/C6, followed by the later paresis of the right limbs. The haemangioblastoma was resected completely. Twelve months after the operation, the spinal symptoms receded and the carotid body paraganglioma still was asymptomatic. The current case of carotid body paraganglioma in patient with the 393C>A (N131K) missense mutation in the VHL gene, supports association of this specific mutation and VHL disease type 2, and suggests its correlation with susceptibility to paragangliomas.
authors.affiliation: Katedra i Oddział Kliniczny Neurochirurgii, Wojewódzki Szpital Specjalistyczny im, Św. Barbary Nr 5, ul Plac Medyków 1, 41-200 Sosnowiec, Poland. majchrzak.mr@gmail.com
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Majchrzak
authors.forename: Cezary
authors.initials: C
authors.lastname: Cybulski
authors.forename: Barbara
authors.initials: B
authors.lastname: Bobek-Billewicz
authors.forename: Henryk
authors.initials: H
authors.lastname: Majchrzak
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
mesh_terms: D001216:Asparagine / Q000235:genetics; D002345:Carotid Body Tumor / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D018325:Hemangioblastoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008239:Lysine / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D013120:Spinal Cord Neoplasms / Q000175:diagnosis / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics*
chemical_list: D001216:Asparagine; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human; D008239:Lysine